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Precise variant interpretation, phenotype ascertainment, and genotype-phenotype correlation of children in the EARLY PRO-TECT Alport trial.
Boeckhaus, Jan; Hoefele, Julia; Riedhammer, Korbinian M; Tönshoff, Burkhard; Ehren, Rasmus; Pape, Lars; Latta, Kay; Fehrenbach, Henry; Lange-Sperandio, Baerbel; Kettwig, Matthias; Hoyer, Peter; Staude, Hagen; Konrad, Martin; John, Ulrike; Gellermann, Jutta; Hoppe, Bernd; Galiano, Matthias; Gessner, Michaela; Pohl, Michael; Bergmann, Carsten; Friede, Tim; Gross, Oliver.
  • Boeckhaus J; Clinic for Nephrology and Rheumatology, University Medical Center Göttingen, Göttingen, Germany.
  • Hoefele J; Institute of Human Genetics, Klinikumrechts der Isar, Technical University of Munich, School of Medicine, Munich, Germany.
  • Riedhammer KM; Institute of Human Genetics, Klinikumrechts der Isar, Technical University of Munich, School of Medicine, Munich, Germany.
  • Tönshoff B; Department of Nephrology, Klinikumrechts der Isar, Technical University of Munich, School of Medicine, Munich, Germany.
  • Ehren R; Department of Pediatrics I, University Children's Hospital Heidelberg, Heidelberg, Germany.
  • Pape L; Pediatric Nephrology, Children's and Adolescents' Hospital, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Latta K; Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany.
  • Fehrenbach H; Clementine Kinderhospital Frankfurt, Frankfurt, Germany.
  • Lange-Sperandio B; Pediatric Nephrology, Children's Hospital, Memmingen, Germany.
  • Kettwig M; Dr. v. HaunerChildren's Hospital, Ludwig Maximilians University, Munich, Germany.
  • Hoyer P; Clinic of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Göttingen, Germany.
  • Staude H; Pediatric Nephrology, Pediatrics II, University of Duisburg-Essen, Essen, Germany.
  • Konrad M; Pediatric Nephrology, University Children's Hospital Rostock, Rostock, Germany.
  • John U; University Children's Hospital Münster, Münster, Germany.
  • Gellermann J; Division of Pediatric Nephrology, University Children's Hospital, Jena, Germany.
  • Hoppe B; Pediatric Nephrology, Charité Children's Hospital, Berlin, Germany.
  • Galiano M; Division of Pediatric Nephrology, Department of Pediatrics, University of Bonn, Bonn, Germany.
  • Gessner M; Department of Pediatrics and Adolescent Medicine, University Hospital, Friedrich-Alexander-University Erlangen, Erlangen, Germany.
  • Pohl M; Pediatric Nephrology, Children's and Adolescents' Hospital, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Bergmann C; Department of General Pediatrics, University of Tuebingen, Tuebingen, Germany.
  • Friede T; Division of Pediatric Nephrology, University Children's Hospital, Jena, Germany.
  • Gross O; Klinik für Kinder- und Jugendmedizin, Klinikum St. Georg, Leipzig, Germany.
Clin Genet ; 99(1): 143-156, 2021 01.
Article en En | MEDLINE | ID: mdl-33040356
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Colágeno Tipo IV / Insuficiencia Renal / Estudios de Asociación Genética / Nefritis Hereditaria Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies / Screening_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Año: 2021 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Colágeno Tipo IV / Insuficiencia Renal / Estudios de Asociación Genética / Nefritis Hereditaria Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies / Screening_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Año: 2021 Tipo del documento: Article